List of variants in gene PCDH19 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)	rs193148631	0.00228
NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val)	rs371109150	0.00004
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu)	rs371594080	0.00001
NM_001184880.2(PCDH19):c.684G>A (p.Val228=)	rs201810406	0.00001
NM_001184880.2(PCDH19):c.1078G>C (p.Glu360Gln)	rs1928410872
NM_001184880.2(PCDH19):c.1081A>G (p.Ser361Gly)
NM_001184880.2(PCDH19):c.1281C>G (p.Asp427Glu)	rs1555985244
NM_001184880.2(PCDH19):c.1355A>C (p.His452Pro)	rs777851773
NM_001184880.2(PCDH19):c.1711G>T (p.Gly571Cys)	rs780242225
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr)	rs1064797379
NM_001184880.2(PCDH19):c.2032T>G (p.Ser678Ala)	rs1602635161
NM_001184880.2(PCDH19):c.222C>G (p.Ile74Met)	rs1064797378
NM_001184880.2(PCDH19):c.2675G>A (p.Ser892Asn)	rs1602600445
NM_001184880.2(PCDH19):c.2861G>A (p.Gly954Glu)
NM_001184880.2(PCDH19):c.387C>A (p.Phe129Leu)	rs1238011122
NM_001184880.2(PCDH19):c.902C>T (p.Thr301Ile)	rs1928420254

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